Neurology Diseases

Centronuclear myopathies (CNMs) are a group of rare genetic disorders characterized by muscle weakness and abnormal positioning of nuclei in muscle cells. Among the various types of CNMs, Type 3, associated with mutations in the MYF6 gene, is a condition that demands attention due to its unique genetic basis and clinical manifestations. Understanding the symptoms […]

Symptoms of CCDC78 Gene Centronuclear Myopathy Type 4 Genetic Test Centronuclear myopathy (CNM) type 4, associated with mutations in the CCDC78 gene, is a rare genetic disorder that affects muscle function. This condition is characterized by muscle weakness (myopathy) that can vary in severity and distribution, often worsening over time. Recognizing the symptoms early can […]

Borjeson-Forssman-Lehmann Syndrome (BFLS) is a rare and complex genetic condition that affects many parts of the body. It is characterized by intellectual disability, obesity, seizures, gynecomastia (enlarged breast tissue in males), hypogonadism (a condition in which the sex glands produce little or no hormones), and distinctive facial features. The syndrome is caused by mutations in […]

Autism Spectrum Disorder (ASD) is a complex developmental condition that involves persistent challenges in social interaction, speech and nonverbal communication, and restricted/repetitive behaviors. The manifestations of autism vary greatly among individuals, but it often presents itself during early childhood and affects a person’s ability to communicate and interact with others. With the advancements in genetic […]

Brody Myopathy is a rare genetic disorder that affects skeletal muscle function. It is characterized by muscle stiffness and difficulty relaxing muscles after contracting them, especially after exercise. This condition is caused by mutations in the ATP2A1 gene, which plays a crucial role in muscle relaxation by controlling calcium levels within muscle cells. Understanding the […]

Understanding the OR13H1 Gene and Its Connection to Autism Autism Spectrum Disorder (ASD) is a complex developmental condition that involves persistent challenges in social interaction, speech, and nonverbal communication, along with restricted/repetitive behaviors. The causes of autism are diverse and include genetic, environmental, and neurological factors. Recent advancements in genetic research have unveiled the role […]

The discovery of the MAOA gene and its link to Brunner syndrome has been a significant milestone in the field of genetics. This rare condition, also known as MAOA deficiency syndrome, has been the subject of extensive research. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the MAOA Gene […]

Autism spectrum disorder (ASD) is a complex developmental condition that involves persistent challenges in social interaction, speech, and nonverbal communication, along with restricted/repetitive behaviors. The symptoms are usually apparent by the time a child is 2 years old. Autism affects an individual’s ability to communicate and interact with others, with symptoms and severity varying widely. […]

In the realm of medical genetics, the detection and understanding of specific gene mutations play a crucial role in diagnosing and managing various conditions. One such condition, Budd-Chiari Syndrome, has garnered attention due to its severe impact on liver function and overall health. This condition is often associated with mutations in the F5 gene, which […]

Autism spectrum disorder (ASD) is a complex developmental condition that involves persistent challenges in social interaction, speech and nonverbal communication, and restricted/repetitive behaviors. The ways in which autism is manifested are highly variable, as are its causes. Among the genetic factors implicated in ASD, mutations in the PKHD1L1 gene have been identified as one potential […]